Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.


:Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations. The two patients presented severe neuropathy with an early onset. One of the mutations (Tyr279Cys) has never been hitherto reported. Electrophysiological investigations suggested a predominant axonal damage in both patients. Despite the similitude of the type of mutations and electromyographic features, the clinical course was different for the patients, highlighting the complexity of genotype/phenotype relationships among GDAP1 mutations.






Rougeot C,Chabrier S,Camdessanche JP,Prieur F,d'Anjou MC,Latour P




Has Abstract


2008-06-01 00:00:00












  • Movement disorders induced by gastrointestinal drugs: two paediatric cases.

    abstract::A number of frequently prescribed gastrointestinal drugs can cause movement disorders in children, as well as in adults. In our centre for paediatric neurology, we saw a 3-year-old girl with abnormal movements mostly of the legs with an inner restlessness (akathisia) while using cisapride. Another patient, a 17-year-o...


    pub_type: 杂志文章


    authors: Elzinga-Huttenga J,Hekster Y,Bijl A,Rotteveel J

    更新日期:2006-04-01 00:00:00

  • Nemaline myopathy and a mitochondrial neuromuscular disorder in one family.

    abstract::A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed vari...


    pub_type: 杂志文章


    authors: Shapira YA,Yarom R,Blank A

    更新日期:1981-05-01 00:00:00

  • Hashimoto's encephalopathy with selective involvement of the nucleus accumbens: a case report.

    abstract::Hashimoto's encephalopathy (HE) is an acute or subacute relapsing disorder usually affecting euthyroid patients with evidence of autoimmune thyroiditis. The neurological manifestations are non-specific, with subacute cognitive impairment, movement disorders, generalized seizures, focal neurological symptoms such as st...


    pub_type: 杂志文章


    authors: Mancardi MM,Fazzini F,Rossi A,Gaggero R

    更新日期:2005-06-01 00:00:00

  • Polymicrogyria and motor neuropathy in Micro syndrome.

    abstract::Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new ins...


    pub_type: 杂志文章


    authors: Nassogne MC,Henrot B,Saint-Martin C,Kadhim H,Dobyns WB,Sébire G

    更新日期:2000-08-01 00:00:00

  • Neurological outcome in comatose children with bilateral loss of cortical somatosensory evoked potentials.

    abstract::Bilateral loss of median nerve cortical somatosensory evoked potentials (SEP) in comatose patients is reported to be one of the most discriminating predictors of poor outcome. We reviewed 53 children with bilateral absent cortical SEP with respect to their outcome and their follow-up SEP. Brain injury was caused by gl...


    pub_type: 杂志文章


    authors: Wohlrab G,Boltshauser E,Schmitt B

    更新日期:2001-10-01 00:00:00

  • Epileptic EEG discharges during burst suppression.

    abstract::Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...


    pub_type: 杂志文章


    authors: Jäntti V,Eriksson K,Hartikainen K,Baer GA

    更新日期:1994-10-01 00:00:00

  • The Complexity Signature: Developing a Tool to Communicate Biopsychosocial Severity of Disease for Children with Chronic Neurological Complexity.

    abstract::Aim For children with medical complexity, interdisciplinary treatment approaches are required to address the various aspects defined within the biopsychosocial model. Methods The present study identifies dimensions of the biopsychosocial model to generate a standardized visualized severity score for chronic neurologic...


    pub_type: 杂志文章


    authors: Krieg SM,Sonanini S,Sollmann N,Focke A,Gerstl L,Heinen F

    更新日期:2016-08-01 00:00:00

  • Outcome in children with space-occupying posterior fossa arachnoid cysts.

    abstract::While prognostic information for Dandy-Walker syndrome and non-progressive cerebellar ataxia/cerebellar hypoplasia is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC). We describe the outcome of patients with symptomatic PFAC shunted as infants. Only...


    pub_type: 杂志文章


    authors: Boltshauser E,Martin F,Altermatt S

    更新日期:2002-06-01 00:00:00

  • Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

    abstract:BACKGROUND:Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein ...


    pub_type: 杂志文章


    authors: Hoffmann GF,Athanassopoulos S,Burlina AB,Duran M,de Klerk JB,Lehnert W,Leonard JV,Monavari AA,Müller E,Muntau AC,Naughten ER,Plecko-Starting B,Superti-Furga A,Zschocke J,Christensen E

    更新日期:1996-06-01 00:00:00

  • Identification of successful clinical fMRI sessions in children: an objective approach.

    abstract:PURPOSE:The term clinical functional magnetic resonance imaging (fMRI) describes an examination with direct clinical impact on the patient. Interpretation of clinical fMRI especially in children, however, is often difficult due to suboptimal data quality. The current gold standard is standardized visual evaluation. To ...


    pub_type: 杂志文章


    authors: Zsoter A,Staudt M,Wilke M

    更新日期:2012-10-01 00:00:00

  • Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity.

    abstract::A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus ...


    pub_type: 杂志文章


    authors: Pierson TM,Zimmerman RA,Tennekoon GI,Bönnemann CG

    更新日期:2008-04-01 00:00:00

  • Symmetrical external capsule lesions in a patient with herpes simplex encephalitis.

    abstract::A 7-year-old boy had symmetrical transient high signal lesions in the external capsules on T2-weighted image during the recovery phase of herpes simplex virus (HSV) encephalitis. Although this finding has never been reported in HSV or other viral encephalitis, a postinfectious allergic mechanism is suspected in this p...


    pub_type: 杂志文章


    authors: Kimura S,Nezu A,Osaka H,Saito K

    更新日期:1994-06-01 00:00:00

  • Neuro-imaging of cerebral visual disturbances in children.

    abstract::The present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...


    pub_type: 杂志文章


    authors: van Nieuwenhuizen O,Willemse J

    更新日期:1988-02-01 00:00:00

  • The value of positron emission tomography in the diagnosis and monitoring of late infantile and juvenile lipopigment storage disorders (so-called Batten or neuronal ceroid lipofuscinoses).

    abstract::Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...


    pub_type: 杂志文章


    authors: Philippart M,da Silva E,Chugani HT

    更新日期:1997-02-01 00:00:00

  • Successful management of drooling with botulinum toxin A in neurologically disabled children.

    abstract:OBJECTIVES:The present study investigates the effect of topical injections of botulinum toxin A into the cephalic salivary glands of children with chronic hypersalivation due to neurodegenerative diseases. METHODS:Five children with hypersalivation due to severe neurological diseases received, under ultrasound guidanc...


    pub_type: 杂志文章


    authors: Ellies M,Rohrbach-Volland S,Arglebe C,Wilken B,Laskawi R,Hanefeld F

    更新日期:2002-12-01 00:00:00

  • Multimodality evoked potentials in children with moyamoya disease.

    abstract::Twenty Japanese children with Moyamoya disease were investigated by examining the multimodality evoked potentials (BAEPs, FVEPs and SSEPs). BAEPs were abnormally prolonged wave I-III and wave III-V in each one (10%). FVEPs were abnormal in 6 (30%), included prolonged latencies, reduced amplitudes and poor waveform in ...


    pub_type: 杂志文章


    authors: Chen YJ,Kurokawa T,Kitamoto I,Ueda K

    更新日期:1989-02-01 00:00:00

  • Patterns of cerebral glucose metabolism using 18FDG and positron tomography in the neurologic investigation of the full term newborn infant.

    abstract::18F fluorodeoxyglucose (18FDG) and positron tomography (PT) were used in 20 full term babies with seizures or hypotonia to describe regional cerebral glucose metabolism. Among babies with seizures, birth asphyxia was the most common cause. PT was performed at age 6-17 days. One hour before PT, 18FDG (50-100 microCi/kg...


    pub_type: 杂志文章


    authors: Thorp PS,Levin SD,Garnett ES,Nahmias C,Firnau G,Toi A,Upton AR,Nobbs PT,Sinclair JC

    更新日期:1988-08-01 00:00:00

  • The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities.

    abstract::The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because...


    pub_type: 杂志文章


    authors: Vos AJ,Joosten EM,Gabreëls-Festen AA,Gabreëls FJ,Notermans SL,Lamers KJ

    更新日期:1982-02-01 00:00:00

  • Infant feeding and cardiorespiratory maturation.

    abstract::134 preterm infants were investigated in their ability to coordinate sucking and breathing. Of those infants who did not coordinate, 79% showed immature cardiorespiratory control whereas of those who suck and breathe simultaneously only 12% had poor cardiorespiratory control. This finding suggests that in infants with...


    pub_type: 杂志文章


    authors: Daniels H,Devlieger H,Minami T,Eggermont E,Casaer P

    更新日期:1990-02-01 00:00:00

  • Use of intrathecal baclofen in children and adolescents: interdisciplinary consensus table 2013.

    abstract::In recent years, intrathecal baclofen (ITB) has attained an important role in the treatment of severe spasticity and dystonia in children. There are principal differences between the use of ITB in children and its use in neurology and oncology in adults. Here, we present a consensus report on best practice for the tre...


    pub_type: 杂志文章,多中心研究


    authors: Berweck S,Lütjen S,Voss W,Diebold U,Mücke KH,Aisch A,Ostertag B,Friedrich M,Wagner C,Kudernatsch M,Granel M,Kluger G,Ludwikowski B,Peraud A,Rauchenzauner M,Schroeder AS,Sprinz A,Wienand R,Wilken B,Kästner S,Zeches

    更新日期:2014-10-01 00:00:00

  • An unusual case of benign reflex myoclonic epilepsy of infancy.

    abstract::A previously healthy one-year-old boy, the youngest child of unrelated parents, presented with a four-week history of episodes of myoclonus triggered only by tactile stimulation to his head. There had been no loss of developmental skills. The electroencephalogram (EEG) revealed generalised polyspike wave activity both...


    pub_type: 杂志文章


    authors: Kurian MA,King MD

    更新日期:2003-06-01 00:00:00

  • Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome.

    abstract::Galloway-Mowat syndrome (GMS) is a rare autosomal-recessive disorder characterised by nephrotic syndrome, microcephaly, and variable brain anomalies. The prognosis is poor with death almost inevitably supervening before the age of 6 years, but atypical cases with later onset of proteinuria and a more protracted course...


    pub_type: 杂志文章


    authors: Steiss JO,Gross S,Neubauer BA,Hahn A

    更新日期:2005-10-01 00:00:00

  • Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

    abstract:BACKGROUND:Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined. METHODS:We identified a series of patients with a phenotype of nonsyndromic spastic paraplegi...


    pub_type: 杂志文章


    authors: Crow YJ,Zaki MS,Abdel-Hamid MS,Abdel-Salam G,Boespflug-Tanguy O,Cordeiro NJ,Gleeson JG,Gowrinathan NR,Laugel V,Renaldo F,Rodriguez D,Livingston JH,Rice GI

    更新日期:2014-12-01 00:00:00

  • Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study.

    abstract::A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earli...


    pub_type: 杂志文章


    authors: Kroon AA,Smit BJ,Barth PG,Hennekam RC

    更新日期:1996-10-01 00:00:00

  • Correlation of corpus callosal morphometry with cognitive and motor function in periventricular leukomalacia.

    abstract:PURPOSE:We aim to correlate size and shape of corpus callosum with severity of motor and cognitive impairments in children with periventricular leukomalacia (PVL). METHODS:Children with PVL were stratified based on the severity of their motor and cognitive impairments. An age-matched control group was established. The...


    pub_type: 杂志文章


    authors: Davatzikos C,Barzi A,Lawrie T,Hoon AH Jr,Melhem ER

    更新日期:2003-06-01 00:00:00

  • Acute changes in cerebral oxygenation and cerebral blood volume in preterm infants during surfactant treatment.

    abstract::Following administration of surfactant a marked depression in aEEG activity occurs for about 10 minutes; the mechanism of this depression is unknown. In view of this, twenty-nine preterm infants were investigated with near infrared spectroscopy (NIRS) to evaluate rapid changes in total cerebral haemoglobin concentrati...


    pub_type: 杂志文章


    authors: Skov L,Hellström-Westas L,Jacobsen T,Greisen G,Svenningsen NW

    更新日期:1992-06-01 00:00:00

  • Paroxysmal visual disturbances of epileptic origin and occipital epilepsy in children.

    abstract::A special form of partial occipital epilepsy clinically resembling migraine and possibly related to the benign focal epilepsies of childhood has recently attracted attention (Gastaut 1982) but its existence is still debated. To approach this problem, in a group of 195 children with idiopathic partial or generalized ep...


    pub_type: 杂志文章


    authors: Deonna T,Ziegler AL,Despland PA

    更新日期:1984-08-01 00:00:00

  • Tonic Tics in Gilles de la Tourette Syndrome.

    abstract:AIM: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenolo...


    pub_type: 杂志文章


    authors: Kaczyńska J,Janik P

    更新日期:2021-01-14 00:00:00

  • Autoantibodies to neuroblastoma cell surface antigens in neuropsychiatric lupus.

    abstract::A human neuroblastoma cell line, LA-N-1 was used as a target cell in a I131 radiolabeled staphylococcal protein-A (I131-SpA) binding assay, to characterize the pattern of antineuronal activity of human sera in fifty-four cases of systemic lupus erythematosus (SLE) including twenty-six patients with neuropsychiatric ma...


    pub_type: 杂志文章


    authors: Danon YL,Garty BZ

    更新日期:1986-02-01 00:00:00

  • Transient EEG patterns during sleep in healthy newborns.

    abstract::24 healthy full-term newborns underwent polygraphic recordings of EEG, EMG, EOG, ECG, abdominal and thoracic respiration during day-time-sleep. Transient EEG patterns (rhythmic alpha and beta activity, spikes/sharp waves and frontal sharp transients) were visually evaluated and quantified. Rhythmic alpha activity is n...


    pub_type: 杂志文章


    authors: Statz A,Dumermuth G,Mieth D,Duc G

    更新日期:1982-08-01 00:00:00